Abstract
Genetics of Alzheimer's disease : J. Hardy, A. Goate, L. James, N. Irving, M. Mullan, M. Rossor, L. Giuffra. Dementia Research Group, Departments of Biochemistry and Molecular Genetics and Neurology, St. Mary's Hospital Medical School, London W2 1PG, England
Highlights
Alzheimer’s disease (AD) is a devastating disease characterized by decreased cognition and is the most common form of dementia affecting an estimated 24 to 35 million people worldwide [1,2,3]
It is widely accepted that mitochondrial function is disrupted in the brains of AD patients [1, 9,10,11,12,13] and that neuritic and diffuse plaques (NPs) aggregate within mitochondria [14, 15]
Endocytosis is a primary interest in AD etiology, and several genes involved in endocytosis such as bridging integrator 1 (BIN1), PICALM, component (3b/4b) receptor 1 (CR1), and CD2-associated protein (CD2AP) are, unsurprisingly, associated with AD
Summary
Alzheimer’s disease (AD) is a devastating disease characterized by decreased cognition and is the most common form of dementia affecting an estimated 24 to 35 million people worldwide [1,2,3]. It is widely accepted that mitochondrial function is disrupted in the brains of AD patients [1, 9,10,11,12,13] and that NPs aggregate within mitochondria [14, 15] It is not known, whether mitochondrial dysfunction is a cause or effect of NP aggregation [11]. In contrast to the mitochondrial cascade hypothesis, in the amyloid cascade hypothesis, changes such as Aβ aggregation and tau phosphorylation happen first and lead to the dysfunction of mitochondria [10, 13, 17] Each of these hypotheses is likely to be affected by both genetic and nongenetic factors. The London mutation (V717I) is located after the Aβ domain and results in higher Aβ42 [28]
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